title: Myopathological findings in thalassemia major.
abstract: In thalassemia major (TM) one third of patients suffers from muscle wasting, weakness and cramps. Six patients with TM were studied. All had muscle wasting and proximal weakness; serum levels of vitamin E were low (0.6-7.0 micrograms/dl) while CPK, LDH and aldolase were normal. EMG revealed low-amplitude short-duration polyphasic potentials in 3 patients and normal activity in 3 others. Nerve conduction velocities were normal in 3 patients studied. On muscle biopsies, moderate variation in fiber size with fiber atrophy and preponderance of type 1 fibers were discovered. Our findings confirm the existence of nonspecific myopathic changes in TM. Chronic vitamin E deficiency should be considered in the pathogenesis of the myopathy in TM.
authors.affiliation: Department of Pediatrics (Pediatric Neurology), Hadassah University Hospital, Mt. Scopus, Jerusalem, Israel.
authors.forename: Y
authors.initials: Y
authors.lastname: Shapira
authors.forename: B
authors.initials: B
authors.lastname: Glick
authors.forename: A
authors.initials: A
authors.lastname: Finsterbush
authors.forename: A
authors.initials: A
authors.lastname: Goldfarb
authors.forename: E
authors.initials: E
authors.lastname: Rosenmann
mesh_terms: D000293:Adolescent; D000328:Adult; D001284:Atrophy; D004576:Electromyography; D005260:Female; D005293:Ferritins / Q000097:blood; D006801:Humans; D008297:Male; D009132:Muscles / Q000473:pathology* / Q000503:physiopathology; D009431:Neural Conduction / Q000502:physiology; D013789:Thalassemia / Q000097:blood / Q000473:pathology* / Q000503:physiopathology; D014810:Vitamin E / Q000097:blood
chemical_list: D014810:Vitamin E; D005293:Ferritins